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DESCRIBE <http://purl.uniprot.org/SHA-384/6B88E54A0EBB111BD49303B8F86B0977560248C2D4EF2A432A2E4C323DB6907EB0A31C1EF7F76324A7FE384F9E4B1256>
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http://purl.uniprot.org/SHA-384/6B88E54A0EBB111BD49303B8F86B0977560248C2D4EF2A432A2E4C323DB6907EB0A31C1EF7F76324A7FE384F9E4B1256
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6B88E54A0EBB111BD49303B8F86B0977560248C2D4EF2A432A2E4C323DB6907EB0A31C1EF7F76324A7FE384F9E4B1256
http://www.w3.org/2000/01/rdf-schema#comment
"The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X)."
xsd:string
http://purl.uniprot.org/uniprot/#_BCE5FCE0221D4955737B0C3E6060980B14804EED9F6632321B26AB69F70752096C95E8DFB5D1A047D5922E6C9FEF3FAB
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6B88E54A0EBB111BD49303B8F86B0977560248C2D4EF2A432A2E4C323DB6907EB0A31C1EF7F76324A7FE384F9E4B1256
http://purl.uniprot.org/uniprot/Q9NXS9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6B88E54A0EBB111BD49303B8F86B0977560248C2D4EF2A432A2E4C323DB6907EB0A31C1EF7F76324A7FE384F9E4B1256
http://purl.uniprot.org/uniprot/#_Q9NXS9-mappedCitation-24300288
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6B88E54A0EBB111BD49303B8F86B0977560248C2D4EF2A432A2E4C323DB6907EB0A31C1EF7F76324A7FE384F9E4B1256